Daphne Lehalle

Daphne Lehalle

UNVERIFIED PROFILE

Are you Daphne Lehalle?   Register this Author

Register author
Daphne Lehalle

Daphne Lehalle

Publications by authors named "Daphne Lehalle"

Are you Daphne Lehalle?   Register this Author

32Publications

1542Reads

43Profile Views

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Eur J Med Genet 2017 Nov 12;60(11):595-604. Epub 2017 Aug 12.

Equipe Génétique des Anomalies du Développement, INSERM UMR1231, Université de Bourgogne-Franche Comté, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, France. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212173019
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2017.08.011DOI Listing
November 2017

Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism.

Hum Pathol 2016 12 3;58:62-71. Epub 2016 Aug 3.

INSERM, UMRS 1138, Centre de Recherche de Cordeliers, Molecular Oral Pathology, 75006 Paris, France; Université Paris Descartes, 75006 Paris, France; APHP, Necker Enfants Malades, Service de Chirurgie Maxillo-Faciale et Plastique, 75015 Paris, France; APHP, CRMR des Malformations Rares de la Face et de la Cavité Buccale, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.humpath.2016.07.019DOI Listing
December 2016

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.

Hum Mutat 2015 Feb 11;36(2):187-90. Epub 2014 Dec 11.

Department of Genetics, INSERM U1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades (AP-HP), Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22729DOI Listing
February 2015

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.

Am J Med Genet A 2014 May 24;164A(5):1310-7. Epub 2014 Mar 24.

Département de Génétique Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France; INSERM U781, Université Sorbonne Paris Cité, Institut IMAGINE, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36452DOI Listing
May 2014

Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome.

Am J Med Genet A 2011 Jul 10;155A(7):1685-9. Epub 2011 Jun 10.

Manchester Biomedical Research Centre, MAHSC, St Mary's Hospital, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34055DOI Listing
July 2011